DNA icon

Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9911 ANO10 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9911ANO1081479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

The autosomal recessive spinocerebellar ataxias are a group of clinically and genetically heterogeneous progressive neurodegenerative disorders, each of which is rare in the general population. Autosomal recessive spinocerebellar-10 (SCAR10; OMIM 613728) has been described in three unrelated sibships of Dutch, French, and Serbian ancestries (Vermeer et al. Am J Hum Genet 87:813-819, 2010). Patients had onset of clinical symptoms in the teenage or young adult years. Presenting signs included gait and limb ataxia, dysarthria, hyperreflexia, and nystagmus. Nystagmus was described as gaze-evoked downbeat nystagmus with hypermetric saccades. Marked cerebellar atrophy was evident on brain imaging. One set of affected siblings also had tortuosity of the conjunctival vessels and mild to moderate mental retardation was present in two of the three affected siblings.

Genetics

Autosomal recessive spinocerebellar-10 is inherited as an autosomal recessive disorder.  Anoctamin 10 is encoded by ANO10 (also known as TMEM16) and is a member of a family of calcium-activated chloride channel proteins (Hartzell et al. J Physiol 587:2127-2139, 2009).  It is not clear yet if anoctamin 10 is itself a chloride channel protein (Vermeer, 2010).  Thus far, only four different ANO10 variants have been reported in the literature (Vermeer, 2010).  These variants include a missense variant, a splice site variant, and two small deletions.

Clinical Sensitivity - Sequencing with CNV PGxome

Only a small number of patients have been described with this form of spinocerebellar ataxia; therefore, clinical sensitivity cannot be estimated. Analytical sensitivity may be high because all ANO10 variants reported to date have been detectable by direct sequencing of genomic DNA.

Testing Strategy

This test provides full coverage of all coding exons of the ANO10 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with spinocerebellar ataxia with onset in the teenage years or early twenties and with demonstrated or suspected autosomal recessive inheritance. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ANO10.

Gene

Official Gene Symbol OMIM ID
ANO10 613726
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Spinocerebellar Ataxia, Autosomal Recessive 10 613728

Citations

  • Hartzell, H. C., et.al. (2009). "Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels." J Physiol 587(Pt 10): 2127-39. PubMed ID: 19015192
  • Vermeer, S., et.al. (2010). "Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia." Am J Hum Genet 87(6): 813-9. PubMed ID: 21092923
  • Vermeer, S., et.al. (2010). "Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia." Am J Hum Genet 87(6): 813-9. PubMed ID: 21092923

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

ORDER OPTIONS

An error has occurred while calculating the price. Please try again or contact up for assistance.

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
×
Copy Text to Clipboard
×